A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6944n100



Internal ID20158560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7465919..7541457hg38UCSC Ensembl
chr8:7323441..7398979hg19UCSC Ensembl
chr8:7310851..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3875539
hg1975539
hg1875539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027016, nsv1030611, nsv1028417
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6944n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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